日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure

DNAJB4基因功能缺失变异会导致肌病,并伴有早期呼吸衰竭。

Conrad C Weihl ,Ana Töpf ,Rocio Bengoechea ,Jennifer Duff ,Richard Charlton ,Solange Kapetanovic Garcia ,Cristina Domínguez-González ,Abdulaziz Alsaman ,Aurelio Hernández-Laín ,Luis Varona Franco ,Monica Elizabeth Ponce Sanchez ,Sarah J Beecroft ,Hayley Goullee ,Jil Daw ,Ankan Bhadra ,Heather True ,Michio Inoue ,Andrew R Findlay ,Nigel Laing ,Montse Olivé ,Gianina Ravenscroft ,Volker Straub

Clinical presentation and proteomic signature of patients with TANGO2 mutations

TANGO2 突变患者的临床表现和蛋白质组学特征

Nadja Mingirulli, Angela Pyle, Denisa Hathazi, Charlotte L Alston, Nicolai Kohlschmidt, Gina O'Grady, Leigh Waddell, Frances Evesson, Sandra B T Cooper, Christian Turner, Jennifer Duff, Ana Topf, Delia Yubero, Cristina Jou, Andrés Nascimento, Carlos Ortez, Angels García-Cazorla, Claudia Gross, Maria

Homozygous TAF1C variants are associated with a novel childhood-onset neurological phenotype

纯合 TAF1C 变异与儿童期发病的新型神经系统表型相关

Oula Knuutinen, Angela Pyle, Maria Suo-Palosaari, Jennifer Duff, Tawfiq Froukh, Anna-Elina Lehesjoki, Salla M Kangas, James Cassidy, Latifa Maraqa, Riikka Keski-Filppula, Hannaleena Kokkonen, Johanna Uusimaa, Rita Horvath, Päivi Vieira

Clonal expansion of mtDNA deletions: different disease models assessed by digital droplet PCR in single muscle cells

线粒体DNA缺失的克隆扩增:通过单肌细胞数字液滴PCR评估不同的疾病模型

Selena Trifunov, Angela Pyle, Maria Lucia Valentino, Rocco Liguori, Patrick Yu-Wai-Man, Florence Burté, Jennifer Duff, Stephanie Kleinle, Isabel Diebold, Michela Rugolo, Rita Horvath, Valerio Carelli

A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies

导致人类肌病中线粒体融合与裂变失衡的新机制

Marina Bartsakoulia, Angela Pyle, Diego Troncoso-Chandía, Josefa Vial-Brizzi, Marysol V Paz-Fiblas, Jennifer Duff, Helen Griffin, Veronika Boczonadi, Hanns Lochmüller, Stephanie Kleinle, Patrick F Chinnery, Sarah Grünert, Janbernd Kirschner, Verónica Eisner, Rita Horvath

Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations

使用脱靶读取进行准确的线粒体 DNA 测序,可通过单一测试识别致病点突变

Helen R Griffin, Angela Pyle, Emma L Blakely, Charlotte L Alston, Jennifer Duff, Gavin Hudson, Rita Horvath, Ian J Wilson, Mauro Santibanez-Koref, Robert W Taylor, Patrick F Chinnery

How couples who have undergone in vitro fertilization decide what to do with surplus frozen embryos

接受体外受精的夫妇如何决定如何处理多余的冷冻胚胎

Nachtigall, Robert D; Mac Dougall, Kirstin; Harrington, Jennifer; Duff, Julia; Lee, Matthew; Becker, Gay